Detalhe da pesquisa
1.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Cell
; 146(6): 889-903, 2011 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925314
2.
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; 26(7): 101126, 2024 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
3.
Patterns of co-occurring birth defects in children with anotia and microtia.
Am J Med Genet A
; 191(3): 805-812, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36541232
4.
Birth defect co-occurrence patterns in the Texas Birth Defects Registry.
Pediatr Res
; 91(5): 1278-1285, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193968
5.
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
Cleft Palate Craniofac J
; 59(4): 417-426, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33906455
6.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Genet Med
; 23(10): 1873-1881, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113002
7.
Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
Am J Med Genet A
; 185(6): 1787-1793, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749998
8.
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Am J Hum Genet
; 100(6): 907-925, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575647
9.
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Mol Genet Metab
; 130(1): 49-57, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165008
10.
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Am J Med Genet A
; 182(4): 652-658, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883306
11.
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele.
Am J Med Genet A
; 182(11): 2581-2593, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885608
12.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Am J Hum Genet
; 99(3): 720-727, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545676
13.
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
J Clin Endocrinol Metab
; 108(7): 1696-1708, 2023 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36633570
14.
Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader-Willi/Angelman syndromes?
Mol Cytogenet
; 14(1): 37, 2021 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34261519
15.
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia.
Ophthalmic Epidemiol
; 28(5): 428-435, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33345678
16.
Patterns of co-occurring birth defects among infants with hypospadias.
J Pediatr Urol
; 17(1): 64.e1-64.e8, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33281045
17.
Spectra of particulate backscattering in natural waters.
Opt Express
; 17(18): 16192-208, 2009 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-19724619
18.
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries.
Birth Defects Res
; 111(18): 1356-1364, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313535
19.
DNM1 encephalopathy: A new disease of vesicle fission.
Neurology
; 89(4): 385-394, 2017 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28667181
20.
Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasË® [J Pediatr Urol 17 (2021) 64.e1-64.e8].
J Pediatr Urol
; 17(4): e1, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34325994